Correlation of METTL4 genetic variants and severe pneumonia pediatric patients in Southern China
Abstract Background Pneumonia is a major cause of mortality and health burden in children under five, yet its genetic etiology remains poorly understood. Methyltransferase 4, N6-adenosine (METTL4), is a methyltransferase enzyme responsible for RNA and DNA methylation and is known to be activated und...
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2025-05-01
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| Online Access: | https://doi.org/10.1186/s12863-025-01306-5 |
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| author | Liuheyi Ma Xiaoyu Zuo Bingtai Lu Yuxia Zhang |
| author_facet | Liuheyi Ma Xiaoyu Zuo Bingtai Lu Yuxia Zhang |
| author_sort | Liuheyi Ma |
| collection | DOAJ |
| description | Abstract Background Pneumonia is a major cause of mortality and health burden in children under five, yet its genetic etiology remains poorly understood. Methyltransferase 4, N6-adenosine (METTL4), is a methyltransferase enzyme responsible for RNA and DNA methylation and is known to be activated under hypoxic conditions. However, its potential link to susceptibility to pneumonia has not been evaluated. This study aimed to explore candidate regulatory single nucleotide polymorphisms (SNPs) within the METTL4 gene and their association with the development of severe pneumonia. Results In this study, we recruited a cohort of 1034 children with severe pneumonia and 8426 healthy controls. We investigated the associations of candidate regulatory single nucleotide polymorphisms (SNPs) within METTL4 polymorphisms with severe pneumonia. Our results indicated that the C allele of rs9989554 (P = 0.00023, OR = 1.21, 95% CI: 1.09–1.34) and the G allele of rs16943442 (P = 0.0026, OR = 1.22, 95% CI: 1.07–1.38) were significantly associated with an increased risk of severe pneumonia. The regulatory potential of these two SNPs in the lung was investigated using tools such as expression quantitative trait loci (eQTLs), RegulomeDB, and FORGEdb. Conclusions This study represents the first investigation elucidating the role of genetic variations in the METTL4 gene and their influence on susceptibility to severe pneumonia in pediatric populations. METTL4 is identified as a novel predisposing gene for severe pneumonia and a potential therapeutic target. Further research is warranted to validate this correlation and to comprehensively elucidate the biological role of the METTL4 gene in severe pneumonia. |
| format | Article |
| id | doaj-art-e06c929f161948bfab87e08af75ebcfe |
| institution | OA Journals |
| issn | 2730-6844 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Genomic Data |
| spelling | doaj-art-e06c929f161948bfab87e08af75ebcfe2025-08-20T02:10:49ZengBMCBMC Genomic Data2730-68442025-05-012611810.1186/s12863-025-01306-5Correlation of METTL4 genetic variants and severe pneumonia pediatric patients in Southern ChinaLiuheyi Ma0Xiaoyu Zuo1Bingtai Lu2Yuxia Zhang3School of Medicine, South China University of TechnologyDepartment of Pediatric Surgery, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversityGuangzhou Institute of Pediatrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversitySchool of Medicine, South China University of TechnologyAbstract Background Pneumonia is a major cause of mortality and health burden in children under five, yet its genetic etiology remains poorly understood. Methyltransferase 4, N6-adenosine (METTL4), is a methyltransferase enzyme responsible for RNA and DNA methylation and is known to be activated under hypoxic conditions. However, its potential link to susceptibility to pneumonia has not been evaluated. This study aimed to explore candidate regulatory single nucleotide polymorphisms (SNPs) within the METTL4 gene and their association with the development of severe pneumonia. Results In this study, we recruited a cohort of 1034 children with severe pneumonia and 8426 healthy controls. We investigated the associations of candidate regulatory single nucleotide polymorphisms (SNPs) within METTL4 polymorphisms with severe pneumonia. Our results indicated that the C allele of rs9989554 (P = 0.00023, OR = 1.21, 95% CI: 1.09–1.34) and the G allele of rs16943442 (P = 0.0026, OR = 1.22, 95% CI: 1.07–1.38) were significantly associated with an increased risk of severe pneumonia. The regulatory potential of these two SNPs in the lung was investigated using tools such as expression quantitative trait loci (eQTLs), RegulomeDB, and FORGEdb. Conclusions This study represents the first investigation elucidating the role of genetic variations in the METTL4 gene and their influence on susceptibility to severe pneumonia in pediatric populations. METTL4 is identified as a novel predisposing gene for severe pneumonia and a potential therapeutic target. Further research is warranted to validate this correlation and to comprehensively elucidate the biological role of the METTL4 gene in severe pneumonia.https://doi.org/10.1186/s12863-025-01306-5Methyltransferase4, N6-adenosine (METTL4)Single nucleotide polymorphisms (SNPs)Severe pneumoniaGenetic susceptibility |
| spellingShingle | Liuheyi Ma Xiaoyu Zuo Bingtai Lu Yuxia Zhang Correlation of METTL4 genetic variants and severe pneumonia pediatric patients in Southern China BMC Genomic Data Methyltransferase4, N6-adenosine (METTL4) Single nucleotide polymorphisms (SNPs) Severe pneumonia Genetic susceptibility |
| title | Correlation of METTL4 genetic variants and severe pneumonia pediatric patients in Southern China |
| title_full | Correlation of METTL4 genetic variants and severe pneumonia pediatric patients in Southern China |
| title_fullStr | Correlation of METTL4 genetic variants and severe pneumonia pediatric patients in Southern China |
| title_full_unstemmed | Correlation of METTL4 genetic variants and severe pneumonia pediatric patients in Southern China |
| title_short | Correlation of METTL4 genetic variants and severe pneumonia pediatric patients in Southern China |
| title_sort | correlation of mettl4 genetic variants and severe pneumonia pediatric patients in southern china |
| topic | Methyltransferase4, N6-adenosine (METTL4) Single nucleotide polymorphisms (SNPs) Severe pneumonia Genetic susceptibility |
| url | https://doi.org/10.1186/s12863-025-01306-5 |
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